Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02232:Nasp'

285727

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nasp

Ensembl Gene

ENSMUSG00000028693

Gene Name

nuclear autoantigenic sperm protein (histone-binding)

Synonyms

Nasp-T, 5033430J04Rik, Epcs32, D4Ertd767e

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02232

Quality Score

Status

Chromosome

Chromosomal Location

116458249-116485138 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 116461997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 170 (E170A)

Ref Sequence

ENSEMBL: ENSMUSP00000079946 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030456] [ENSMUST00000030457] [ENSMUST00000051869] [ENSMUST00000081182]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000030456
AA Change: E522A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030456
Gene: ENSMUSG00000028693
AA Change: E522A

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
TPR	43	76	8.51e0	SMART
low complexity region	111	126	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
low complexity region	336	352	N/A	INTRINSIC
low complexity region	455	478	N/A	INTRINSIC
low complexity region	492	503	N/A	INTRINSIC
TPR	528	561	3.05e0	SMART
TPR	570	603	2.38e-2	SMART
low complexity region	620	640	N/A	INTRINSIC
low complexity region	703	715	N/A	INTRINSIC
low complexity region	742	759	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030457
AA Change: E197A

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030457
Gene: ENSMUSG00000028693
AA Change: E197A

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
TPR	43	76	8.51e0	SMART
low complexity region	111	126	N/A	INTRINSIC
low complexity region	133	153	N/A	INTRINSIC
low complexity region	167	178	N/A	INTRINSIC
TPR	203	236	3.05e0	SMART
TPR	245	278	2.38e-2	SMART
low complexity region	295	315	N/A	INTRINSIC
low complexity region	378	390	N/A	INTRINSIC
low complexity region	417	434	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000051869

SMART Domains

Protein: ENSMUSP00000059848
Gene: ENSMUSG00000034035

Domain	Start	End	E-Value	Type
coiled coil region	97	161	N/A	INTRINSIC
coiled coil region	219	270	N/A	INTRINSIC
low complexity region	415	427	N/A	INTRINSIC
low complexity region	523	537	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000081182
AA Change: E170A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000079946
Gene: ENSMUSG00000028693
AA Change: E170A

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
TPR	43	76	6.2e-2	SMART
low complexity region	84	99	N/A	INTRINSIC
low complexity region	106	126	N/A	INTRINSIC
low complexity region	140	151	N/A	INTRINSIC
TPR	176	209	1.4e-2	SMART
TPR	218	251	1.1e-4	SMART
low complexity region	268	288	N/A	INTRINSIC
low complexity region	351	363	N/A	INTRINSIC
low complexity region	390	407	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121907

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151441

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155398

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a H1 histone binding protein that is involved in transporting histones into the nucleus of dividing cells. Multiple isoforms are encoded by transcript variants of this gene. The somatic form is expressed in all mitotic cells, is localized to the nucleus, and is coupled to the cell cycle. The testicular form is expressed in embryonic tissues, tumor cells, and the testis. In male germ cells, this protein is localized to the cytoplasm of primary spermatocytes, the nucleus of spermatids, and the periacrosomal region of mature spermatozoa. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality before implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810030O07Rik	A	G	X: 12,530,764 (GRCm39)	V199A	possibly damaging	Het
Aco1	T	C	4: 40,175,996 (GRCm39)	M210T	probably damaging	Het
Actr10	G	A	12: 70,990,289 (GRCm39)	E114K	probably benign	Het
Adam6b	T	C	12: 113,454,764 (GRCm39)	M527T	probably benign	Het
Ahi1	C	T	10: 20,857,274 (GRCm39)	T623M	probably damaging	Het
Aldh8a1	T	C	10: 21,271,545 (GRCm39)	W424R	probably damaging	Het
Apeh	A	T	9: 107,969,071 (GRCm39)	S299T	probably benign	Het
Bbs5	A	C	2: 69,485,895 (GRCm39)	I147L	probably benign	Het
Bmp2k	T	G	5: 97,179,109 (GRCm39)		probably benign	Het
C2cd6	A	G	1: 59,101,651 (GRCm39)	F336S	probably damaging	Het
Cd274	T	A	19: 29,359,938 (GRCm39)	L248M	probably damaging	Het
Chsy3	T	A	18: 59,542,383 (GRCm39)	M507K	possibly damaging	Het
Clip2	T	C	5: 134,531,984 (GRCm39)	N572S	probably damaging	Het
Commd9	A	G	2: 101,731,324 (GRCm39)	T170A	probably benign	Het
Cpt1c	G	A	7: 44,609,580 (GRCm39)	S674L	probably damaging	Het
Dhx33	C	A	11: 70,878,030 (GRCm39)	R671L	probably damaging	Het
Dnah5	G	A	15: 28,299,386 (GRCm39)	E1583K	probably damaging	Het
Eed	G	T	7: 89,621,493 (GRCm39)	N51K	probably damaging	Het
Efcab14	A	G	4: 115,617,261 (GRCm39)		probably benign	Het
Ephb2	A	C	4: 136,384,762 (GRCm39)	M884R	probably damaging	Het
Foxn2	G	T	17: 88,770,479 (GRCm39)	A109S	probably benign	Het
Fut1	A	T	7: 45,268,871 (GRCm39)	D220V	probably damaging	Het
Gm6468	C	T	5: 95,429,066 (GRCm39)		noncoding transcript	Het
Gm7964	A	T	7: 83,405,515 (GRCm39)		noncoding transcript	Het
Gm9772	C	T	17: 22,226,031 (GRCm39)		probably benign	Het
Golph3	G	T	15: 12,349,578 (GRCm39)	M199I	probably benign	Het
Itpr1	A	G	6: 108,394,884 (GRCm39)	N1666D	probably damaging	Het
Itprid1	A	G	6: 55,944,922 (GRCm39)	T548A	unknown	Het
Kif12	C	T	4: 63,084,732 (GRCm39)	E529K	probably benign	Het
Lpp	C	T	16: 24,580,895 (GRCm39)	R204W	probably damaging	Het
Lrrc52	T	A	1: 167,293,949 (GRCm39)	N112I	probably damaging	Het
Msi1	T	A	5: 115,579,506 (GRCm39)		probably null	Het
Necab2	T	A	8: 120,189,391 (GRCm39)	V187E	probably damaging	Het
Obscn	T	C	11: 58,929,804 (GRCm39)	E5790G	probably damaging	Het
Or7e176	A	T	9: 20,171,511 (GRCm39)	D125V	probably damaging	Het
Or9a7	A	G	6: 40,520,980 (GRCm39)	L311P	probably damaging	Het
Pard3b	C	T	1: 62,205,541 (GRCm39)	T445I	probably damaging	Het
Pcdh10	A	G	3: 45,335,377 (GRCm39)	I564V	probably benign	Het
Pcdhb22	T	A	18: 37,653,602 (GRCm39)	L690Q	probably damaging	Het
Pemt	T	A	11: 59,867,680 (GRCm39)	T115S	probably damaging	Het
Plcl2	A	G	17: 50,913,669 (GRCm39)	N226S	possibly damaging	Het
Ppp6r1	A	G	7: 4,636,341 (GRCm39)	S750P	probably damaging	Het
Prtg	T	C	9: 72,758,771 (GRCm39)	V375A	probably damaging	Het
Psd3	A	C	8: 68,356,797 (GRCm39)	M673R	probably damaging	Het
Ptprt	T	C	2: 161,372,437 (GRCm39)	I1392V	probably damaging	Het
Rlf	G	A	4: 121,039,811 (GRCm39)	T200I	probably benign	Het
Robo1	G	A	16: 72,768,872 (GRCm39)	G479D	possibly damaging	Het
Rpe65	A	G	3: 159,309,988 (GRCm39)	D87G	possibly damaging	Het
Sema3g	T	C	14: 30,943,181 (GRCm39)	V148A	probably damaging	Het
Sgms2	G	A	3: 131,116,833 (GRCm39)	P341S	probably benign	Het
Skint7	A	T	4: 111,839,225 (GRCm39)	Q173L	possibly damaging	Het
Slc2a9	G	A	5: 38,594,013 (GRCm39)	A150V	probably benign	Het
Slc35c2	A	G	2: 165,124,801 (GRCm39)	L58P	probably damaging	Het
Slc7a6	G	A	8: 106,923,206 (GRCm39)	C495Y	possibly damaging	Het
Smurf1	G	A	5: 144,823,248 (GRCm39)	P458L	probably damaging	Het
Spag1	C	T	15: 36,221,710 (GRCm39)	T601I	probably benign	Het
Spink8	A	T	9: 109,649,665 (GRCm39)	Q49L	possibly damaging	Het
Spout1	A	T	2: 30,065,266 (GRCm39)	Y284N	probably damaging	Het
Srrm1	A	T	4: 135,080,427 (GRCm39)	M1K	probably null	Het
Stxbp5l	A	G	16: 37,150,257 (GRCm39)	L116P	probably damaging	Het
Tlr9	T	C	9: 106,102,136 (GRCm39)	F476L	probably damaging	Het
Tmem41b	A	G	7: 109,577,960 (GRCm39)	V108A	probably damaging	Het
Tra2b	A	G	16: 22,067,790 (GRCm39)		probably benign	Het
Trio	G	T	15: 27,902,647 (GRCm39)	H271Q	probably benign	Het
Ttn	A	G	2: 76,723,263 (GRCm39)		probably benign	Het
Usp51	A	T	X: 151,791,669 (GRCm39)	H421L	probably damaging	Het
Vmn2r29	A	T	7: 7,244,810 (GRCm39)	W355R	probably damaging	Het
Vpreb1a	T	C	16: 16,686,603 (GRCm39)	N96D	possibly damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het
Zp3r	C	A	1: 130,524,404 (GRCm39)	C213F	probably damaging	Het

Other mutations in Nasp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00657:Nasp	APN	4	116,461,416 (GRCm39)	missense	probably damaging	1.00
IGL00780:Nasp	APN	4	116,461,196 (GRCm39)	nonsense	probably null
IGL00833:Nasp	APN	4	116,459,933 (GRCm39)	missense	probably damaging	1.00
R0023:Nasp	UTSW	4	116,462,968 (GRCm39)	splice site	probably benign
R0023:Nasp	UTSW	4	116,462,968 (GRCm39)	splice site	probably benign
R0179:Nasp	UTSW	4	116,459,354 (GRCm39)	missense	probably damaging	1.00
R0385:Nasp	UTSW	4	116,467,892 (GRCm39)	missense	probably benign	0.02
R1707:Nasp	UTSW	4	116,476,133 (GRCm39)	missense	probably damaging	0.99
R1945:Nasp	UTSW	4	116,479,965 (GRCm39)	missense	possibly damaging	0.62
R2061:Nasp	UTSW	4	116,468,323 (GRCm39)	missense	probably benign	0.12
R4983:Nasp	UTSW	4	116,459,382 (GRCm39)	missense	probably damaging	0.99
R5064:Nasp	UTSW	4	116,469,167 (GRCm39)	critical splice donor site	probably null
R5687:Nasp	UTSW	4	116,463,002 (GRCm39)	intron	probably benign
R5713:Nasp	UTSW	4	116,471,558 (GRCm39)	missense	probably benign	0.34
R5839:Nasp	UTSW	4	116,459,288 (GRCm39)	critical splice donor site	probably null
R6145:Nasp	UTSW	4	116,468,274 (GRCm39)	missense	probably benign	0.19
R6159:Nasp	UTSW	4	116,461,086 (GRCm39)	splice site	probably null
R6234:Nasp	UTSW	4	116,479,979 (GRCm39)	missense	possibly damaging	0.51
R6286:Nasp	UTSW	4	116,461,985 (GRCm39)	missense	probably damaging	1.00
R6483:Nasp	UTSW	4	116,476,145 (GRCm39)	missense	probably damaging	1.00
R6899:Nasp	UTSW	4	116,461,530 (GRCm39)	missense	probably damaging	1.00
R7276:Nasp	UTSW	4	116,471,546 (GRCm39)	missense	probably damaging	1.00
R7412:Nasp	UTSW	4	116,467,785 (GRCm39)	missense	possibly damaging	0.85
R7763:Nasp	UTSW	4	116,469,230 (GRCm39)	missense	probably benign	0.03
R8166:Nasp	UTSW	4	116,468,112 (GRCm39)	missense	probably benign	0.38
R8692:Nasp	UTSW	4	116,469,280 (GRCm39)	critical splice acceptor site	probably null
R9093:Nasp	UTSW	4	116,468,017 (GRCm39)	missense	probably benign	0.06
R9175:Nasp	UTSW	4	116,471,576 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16